Department of Clinical Research, Pathology Section, Japan National Hospital Organization, Hakodate Hospital, 16-18 Kawahara-cho, Hakodate, Hokkaido, Japan, 041-8512.
Endocr Pathol. 2010 Jun;21(2):139-43. doi: 10.1007/s12022-009-9098-7.
We report a case of familial, bilateral cervical paragangliomas (PGs) with lymph node metastasis. Patient I-1 is a 56-year-old man with a right carotid body tumor and a left vagal PG. Patient II-1 is a 29-year-old woman and the daughter of Patient I-1; she had a left carotid body tumor with regional lymph node metastasis. Histology of all the tumors showed the typical pattern of PGs, i.e., a zellballen pattern composed of chief cells positive for chromogranin A, and sustentacular cells positive for S100 protein. The Ki-67 labeling index was 1% to 3% in these PGs in both the primary and the metastatic tumors. Immunohistochemical analysis showed expression of somatostatin receptor (sstr) type 2A, but was negative for sstr type 5. Genomic mutation in succinate dehydrogenase type D was confirmed in both patients. Here, we present a case of familial PGs, and discuss the cases with special reference to pathologic diagnosis, genetics, and treatment.
我们报告了一例家族性双侧颈旁嗜铬细胞瘤（PG）伴淋巴结转移病例。患者 I-1 为 56 岁男性，右侧颈动脉体瘤，左侧迷走 PG；患者 II-1 为 29 岁女性，I-1 的女儿，左侧颈动脉体瘤伴区域淋巴结转移。所有肿瘤的组织学均显示典型的 PG 模式，即由嗜铬粒蛋白 A 阳性的主细胞和 S100 蛋白阳性的支持细胞组成的 Zellballen 模式。这些原发性和转移性肿瘤中的 Ki-67 标记指数为 1%至 3%。免疫组化分析显示生长抑素受体（sstr）类型 2A 的表达，但 sstr 类型 5 为阴性。在两名患者中均证实了琥珀酸脱氢酶 D 型的基因组突变。在此，我们报告了一例家族性 PG 病例，并结合病理诊断、遗传学和治疗方面的特殊参考对病例进行了讨论。
